Genetic and Clinical Characterization of Patients with HNF1B-Related MODY in Croatia

Background: Mutation of the gene encoding Hepatocyte Nuclear transcription Factor-1 Beta (HNF1B) causes a rare monogenetic subtype Maturity-Onset Diabetes Young (MODY). HNF1B-related MODY results in dysfunction multiple organ systems. However, genetic analysis enables personalized medicine for patients and families. Aims: To understand clinical characteristics explore mutations Croatian patients. Methods: This was retrospective observational study individuals (and their relatives) who were, due to suspicion MODY, referred Department Laboratory Diagnostics at University Hospital Centre Zagreb testing. Results: A total 118 participants, 56% females, were screened. Seven (three females) from five families identified have MODY. The median age diagnosis 31 (11–45) years, c-peptide 0.8 (0.55–1.39) nmol/L, HbA1c 9.1 (5.7–18.4)%, BMI 22.9 kg/m2 (17–24.6). Patients had variety manifestations; kidney disease not as frequent liver lesions, neuropsychiatric symptoms, hyperlipidemia, hyperuricemia, hypomagnesemia. We two new pathogenic (c.1006C > G protein p.His336Asp on exon 4 c.1373T p Val458Gly 7). Conclusions: In involving patients, (two previously unknown mutations) (diverse range presentations) aspects found.